Maureen Jacob

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.